PSMB9

PSMB9 (Proteasome Subunit Beta 9) is a protein coding gene. Diseases associated with PSMB9 include Eosinophilic Variant Of Chromophobe Renal Cell Carcinoma andNasopharyngeal Disease. Among its related pathways are Cell Cycle, Mitotic and RET signaling. Gene Ontology annotations related to this gene include threonine-type endopeptidase activity. An important paralog of the gene is PSMB6.

Full Name

Proteasome subunit beta 9

Function

The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues.

Biological Process

Immune system processIEA:UniProtKB-KW
Proteasomal protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Regulation of cysteine-type endopeptidase activityManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm
Nucleus

Involvement in disease

Proteasome-associated autoinflammatory syndrome 3 (PRAAS3):
An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic.

PTM

Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.